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rs797044632

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044632(-;C)
Make rs797044632(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position56501478
GeneBBS2
is asnp
is mentioned by
dbSNPrs797044632
ClinGenrs797044632
ebirs797044632
HLIrs797044632
Exacrs797044632
Varsomers797044632
Maprs797044632
PheGenIrs797044632
hapmaprs797044632
1000 genomesrs797044632
hgdprs797044632
ensemblrs797044632
gopubmedrs797044632
geneviewrs797044632
scholarrs797044632
googlers797044632
pharmgkbrs797044632
gwascentralrs797044632
openSNPrs797044632
23andMers797044632
23andMe allrs797044632
SNP Nexus

SNPshotrs797044632
SNPdbers797044632
MSV3drs797044632
GWAS Ctlgrs797044632
Max Magnitude0
ClinVar
Risk rs797044632(C;C)
Alt rs797044632(C;C)
Reference Rs797044632(-;-)
Significance Pathogenic
Disease Bardet-Biedl syndrome 2
Variation info
Gene BBS2
CLNDBN Bardet-Biedl syndrome 2
Reversed 1
HGVS NC_000016.9:g.56535391dupG
CLNSRC
CLNACC RCV000173906.1,